Novel RHAG allele encoding the Rhnull phenotype in Brazil

Rhnull is a rare phenotype characterized by the loss of Rh antigen expression. This phenotype can be related to several molecular backgrounds. In this study, we show a novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a...

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Veröffentlicht in:Transfusion (Philadelphia, Pa.) Pa.), 2015-10, Vol.55 (10), p.2521-2522
Hauptverfasser: Arnoni, Carine Prisco, Muniz, Janaína Guilhem, Gazito, Diana, Person, Rosangela de Medeiros, Vendrame, Tatiane Aparecida de Paula, Castilho, Lilian, Latini, Flavia Roche Moreira
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Sprache:eng
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Zusammenfassung:Rhnull is a rare phenotype characterized by the loss of Rh antigen expression. This phenotype can be related to several molecular backgrounds. In this study, we show a novel allele in a Brazilian pregnant woman encoding the Rhnull phenotype due to a change in RHAG exon2 c.310C>T, which leads to a premature stop codon (Gln104Stop).
ISSN:0041-1132
1537-2995
DOI:10.1111/trf.13219